BIN1 (bridging integrator 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
274
Gene name Gene Name - the full gene name approved by the HGNC.
Bridging integrator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BIN1
Synonyms (NCBI Gene) Gene synonyms aliases
AMPH2, AMPHL, CNM2, SH3P9
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
SNP ID Visualize variation Clinical significance Consequence
rs61748155 C>A,G,T Benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, intron variant, synonymous variant
rs121909273 C>A Pathogenic Coding sequence variant, missense variant
rs121909274 C>T Pathogenic Coding sequence variant, missense variant
rs121909275 T>A Likely-pathogenic Stop gained, coding sequence variant
rs267606681 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT018686 hsa-miR-335-5p Microarray 18185580
MIRT756005 hsa-miR-200a-3p Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC) 35149697
MIRT821499 hsa-miR-1254 CLIP-seq
MIRT821500 hsa-miR-1305 CLIP-seq
MIRT821501 hsa-miR-296-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(79)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10412034
GO:0002020 Function Protease binding IPI 27179792
GO:0005515 Function Protein binding IPI 10903846, 12604805, 12668730, 15992821, 16275660, 16530520, 17676042, 18647389, 18985028, 19004523, 23399914, 23917616, 24169621, 26395440, 26506308, 28755476, 31413325, 32552912, 33961781, 35271311
GO:0005543 Function Phospholipid binding IBA
GO:0005634 Component Nucleus IDA 8782822, 25051234
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601248 1052 ENSG00000136717
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O00499
Protein name Myc box-dependent-interacting protein 1 (Amphiphysin II) (Amphiphysin-like protein) (Box-dependent myc-interacting protein 1) (Bridging integrator 1)
Protein function Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contract
PDB 1MUZ , 1MV0 , 1MV3 , 2FIC , 2RMY , 2RND , 5I22
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03114 BAR 18 → 268 BAR domain Domain
PF14604 SH3_9 527 → 590 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highest expression in the brain and muscle (PubMed:9182667). Expressed in oligodendrocytes (PubMed:27488240). Isoform IIA is expressed only in the brain, where it is detected in the gray matter, but not in the white matter
Sequence 
MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTR
LQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVD
QALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKPVSLLEK
AAPQWCQGKLQAHLVAQTNLLRNQAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVN
TFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPP
DGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILS
LFEDTFVPEISVTTPSQFEAPGPFSEQASLLDLDFDPLPPVTSPVKAPTPSGQSIPWDLW
EPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGET
AASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQ
LKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP
Sequence length 593
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Endocytosis
Fc gamma R-mediated phagocytosis 		  Clathrin-mediated endocytosis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myopathy Myopathy, centronuclear, 2 rs121909273, rs121909274, rs121909275, rs587783343, rs777176261, rs1249621033 N/A
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Centronuclear Myopathy autosomal recessive centronuclear myopathy, autosomal dominant centronuclear myopathy, centronuclear myopathy N/A N/A GenCC
Deafness Autosomal dominant nonsyndromic hearing loss 22 N/A N/A ClinVar
Dementia Dementia N/A N/A GWAS
Show/Hide Text Mining Associations (51)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 20558387, 21059989, 21220176, 21347408, 21379329, 22445811, 22482808, 22539578, 23202439, 23226438, 23360175, 23419238, 23954108, 24023061, 24205320
View all (46 more)
Alzheimer Disease Inhibit 27346750, 36759259
Alzheimer's disease without Neurofibrillary tangles Associate 32727516
Arrhythmias Cardiac Associate 22300662
Arrhythmogenic Right Ventricular Dysplasia Associate 22300662
Atrophy Associate 24670887, 26993346
Carcinoma Hepatocellular Associate 22281836, 37247278
Cardiomyopathies Associate 22300662
Cell Transformation Viral Associate 19211505
Chromosome Aberrations Associate 20476667